ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3492+3G>A

gnomAD frequency: 0.00013  dbSNP: rs372941709
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001905228 SCV002132046 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change falls in intron 45 of the COL11A1 gene. It does not directly change the encoded amino acid sequence of the COL11A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs372941709, gnomAD 0.2%). This variant has been observed in individual(s) with clinical features of COL11A1-related conditions ‚Äã (PMID: 12673280). This variant is also known as IVS45+3G>A. ClinVar contains an entry for this variant (Variation ID: 1364086). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001905228 SCV002504222 likely benign not provided 2020-04-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV004542149 SCV004787021 likely benign COL11A1-related disorder 2019-04-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.